Kuechler, Alma ; Czeschik, Johanna Christina ; Graf, Elisabeth ; Grasshoff, Ute ; Hüffmeier, Ulrike ; Busa, Tiffany ; Beck-Woedl, Stefanie ; Faivre, Laurence ; Rivière, Jean-Baptiste ; Bader, Ingrid ; Koch, Johannes ; Reis, André 
; Hehr, Ute ; Rittinger, Olaf ; Sperl, Wolfgang ; Haack, Tobias B. ; Wieland, Thomas ; Engels, Hartmut ; Prokisch, Holger ; Strom, Tim M. ; Lüdecke, Hermann-Josef ; Wieczorek, Dagmar
; Hehr, Ute ; Rittinger, Olaf ; Sperl, Wolfgang ; Haack, Tobias B. ; Wieland, Thomas ; Engels, Hartmut ; Prokisch, Holger ; Strom, Tim M. ; Lüdecke, Hermann-Josef ; Wieczorek, Dagmar 
Zusammenfassung
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological ...
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